126 research outputs found
Global patterns of the leaf economics spectrum in wetlands
Contains fulltext :
226771.pdf (publisher's version ) (Open Access
Factor XII mutations, estrogen-dependent inherited angioedema, and related conditions
The clinical, biochemical and genetic features of the conditions known as estrogen-dependent inherited angioedema, estrogen-associated angioedema, hereditary angioedema with normal C-1 inhibitor, type III angioedema, or factor XII angioedema are reviewed. Discussion emphasizes pathogenesis, diagnosis, and management
Impact of Dreissena fouling on the physiological condition of native and invasive bivalves : interspecific and temporal variations
The impact of Dreissena fouling on unionids
has hardly been studied in Europe, despite the fact
that in some ecosystems (e.g. Lake Balaton, Hungary)
infestations of several hundreds to a thousand individuals
per unionid have been observed. At present,
the zebra mussel Dreissena polymorpha is a dominant
species in Lake Balaton and in the last decade three
other invasive bivalves were introduced, potentially
increasing the pressure on native unionid survival. We
examined whether the fouling of dreissenids (zebra
and quagga (D. rostriformis bugensis) mussels) has a
negative impact on native (Anodonta anatina, Unio
pictorum and U. tumidus) and invasive (Corbicula
fluminea and Sinanodonta woodiana) bivalves and
whether there are any interspecific and temporal
variations in fouling intensity and physiological
condition measured by standard condition index and
glycogen content. A significant negative impact was detected on native unionids only in July and September
(no impact was detected in May), when the fouling
rate was high. For invasive species, a significant
negative impact was detected on S. woodiana with a
high level of dressenid infestation; whereas no significant
impact was detected on C. fluminea. Overall, this
study confirms that Dreissena may threaten unionid
species including the invasive S. woodiana, although
high interspecific and temporal variations were
observed. This situation should be taken into account
in future ecological and conservational assessments
because species respond differently to Dreissena
fouling and effects seem to be more pronounced in
late summer/early autumn. In addition, this study
provides the first evidence that the invasive C.
fluminea appear to be less vulnerable to dressenid
fouling.The study was supported by the Hungarian Scientific Fund (KTIA-OTKA) under the contract No. CNK80140
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations
Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells. As a model system, we selected the human mismatch repair protein, MSH2, where missense variants are known to cause the hereditary cancer predisposition disease, known as Lynch syndrome. We show that the majority of disease-causing MSH2 mutations give rise to folding defects and proteasome-dependent degradation rather than inherent loss of function, and accordingly our in silico modeling data accurately identifies disease-causing mutations and outperforms the traditionally used genetic disease predictors. Thus, in conclusion, in silico biophysical modeling should be considered for making genotype-phenotype predictions and for diagnosis of Lynch syndrome, and perhaps other hereditary diseases
The role of the ubiquitination–proteasome pathway in breast cancer: Ubiquitin mediated degradation of growth factor receptors in the pathogenesis and treatment of cancer
Aberrant activity of growth factor receptors has been implicated in the pathogenesis of a wide variety of malignancies. The negative regulation of signaling by growth factor receptors is mediated in large part by the ubiquitination, internalization, and degradation of the activated receptor. Over the past few years, considerable insight into the mechanisms that control receptor downregulation has been gained. There are also data suggesting that mutations that lead to inhibition of downregulation of growth factor receptors could play a role in the pathogenesis of cancer. Therapies directed at enhancing the degradation of growth factor receptors offer a promising approach to the treatment of malignancies
Maternal condition but not corticosterone is linked to brood sex ratio adjustment in a passerine bird
There is evidence of offspring sex ratio adjustment in a range of species, but the potential mechanisms remain largely unknown. Elevated maternal corticosterone (CORT) is associated with factors that can favour brood sex ratio adjustment, such as reduced maternal condition, food availability and partner attractiveness. Therefore, the steroid hormone has been suggested to play a key role in sex ratio manipulation. However, despite correlative and causal evidence CORT is linked to sex ratio manipulation in some avian species, the timing of adjustment varies between studies. Consequently, whether CORT is consistently involved in sex-ratio adjustment, and how the hormone acts as a mechanism for this adjustment remains unclear. Here we measured maternal baseline CORT and body condition in free-living blue tits (Cyanistes caeruleus) over three years and related these factors to brood sex ratio and nestling quality. In addition, a non-invasive technique was employed to experimentally elevate maternal CORT during egg laying, and its effects upon sex ratio and nestling quality were measured. We found that maternal CORT was not correlated with brood sex ratio, but mothers with elevated CORT fledged lighter offspring. Also, experimental elevation of maternal CORT did not influence brood sex ratio or nestling quality. In one year, mothers in superior body condition produced male biased broods, and maternal condition was positively correlated with both nestling mass and growth rate in all years. Unlike previous studies maternal condition was not correlated with maternal CORT. This study provides evidence that maternal condition is linked to brood sex ratio manipulation in blue tits. However, maternal baseline CORT may not be the mechanistic link between the maternal condition and sex ratio adjustment. Overall, this study serves to highlight the complexity of sex ratio adjustment in birds and the difficulties associated with identifying sex biasing mechanisms
Nurses joining family doctors in primary care practices: perceptions of patients with multimorbidity
<p>Abstract</p> <p>Background</p> <p>Among the strategies used to reform primary care, the participation of nurses in primary care practices appears to offer a promising avenue to better meet the needs of vulnerable patients. The present study explores the perceptions and expectations of patients with multimorbidity regarding nurses' presence in primary care practices.</p> <p>Methods</p> <p>18 primary (health) care patients with multimorbidity participated in semi-directed interviews, in order to explore their perceptions and expectations in regard to the involvement of nurses in primary care practices. Interviews were audio-recorded and transcribed. After reviewing the transcripts, the principal investigator and research assistants performed thematic analysis independently and reached consensus on the retained themes.</p> <p>Results</p> <p>Patients with multimorbidity were open to the participation of nurses in primary care practices. They expected greater accessibility, for both themselves and for new patients. However, the issue of shared roles between nurses and doctors was a source of concern. Many patients held the traditional view of the nurse's role as an assistant to the doctor in his or her various duties. In general, participants said they were confident about nurses' competency but expressed concern about nurses performing certain acts that their doctor used to, notwithstanding a close collaboration between the two professionals.</p> <p>Conclusion</p> <p>Patients with multimorbidity are open to the involvement of nurses in primary care practices. However, they expect this participation to be established using clear definitions of professional roles and fields of practice.</p
Current and prospective pharmacological targets in relation to antimigraine action
Migraine is a recurrent incapacitating neurovascular disorder characterized by unilateral and throbbing headaches associated with photophobia, phonophobia, nausea, and vomiting. Current specific drugs used in the acute treatment of migraine interact with vascular receptors, a fact that has raised concerns about their cardiovascular safety. In the past, α-adrenoceptor agonists (ergotamine, dihydroergotamine, isometheptene) were used. The last two decades have witnessed the advent of 5-HT1B/1D receptor agonists (sumatriptan and second-generation triptans), which have a well-established efficacy in the acute treatment of migraine. Moreover, current prophylactic treatments of migraine include 5-HT2 receptor antagonists, Ca2+ channel blockers, and β-adrenoceptor antagonists. Despite the progress in migraine research and in view of its complex etiology, this disease still remains underdiagnosed, and available therapies are underused. In this review, we have discussed pharmacological targets in migraine, with special emphasis on compounds acting on 5-HT (5-HT1-7), adrenergic (α1, α2, and β), calcitonin gene-related peptide (CGRP 1 and CGRP2), adenosine (A1, A2, and A3), glutamate (NMDA, AMPA, kainate, and metabotropic), dopamine, endothelin, and female hormone (estrogen and progesterone) receptors. In addition, we have considered some other targets, including gamma-aminobutyric acid, angiotensin, bradykinin, histamine, and ionotropic receptors, in relation to antimigraine therapy. Finally, the cardiovascular safety of current and prospective antimigraine therapies is touched upon
- …